Variant report

Variant	rs62451112
Chromosome Location	chr7:27933856-27933857
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:27933855..27936003-chr7:27936219..27938818,2	MCF-7	breast:
2	chr7:27933695..27935903-chr7:27942962..27945210,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11984440	0.94[AMR][1000 genomes]
rs12666442	0.88[EUR][1000 genomes]
rs12666447	0.88[EUR][1000 genomes]
rs188	0.82[ASN][1000 genomes]
rs190	0.82[ASN][1000 genomes]
rs216	0.84[ASN][1000 genomes]
rs62451084	0.88[AMR][1000 genomes]
rs62451116	0.88[EUR][1000 genomes]
rs62451117	0.88[EUR][1000 genomes]
rs72598551	0.88[EUR][1000 genomes]
rs72598552	0.88[EUR][1000 genomes]
rs916855	0.84[ASN][1000 genomes]
rs916856	0.84[ASN][1000 genomes]
rs916857	0.81[ASN][1000 genomes]
rs9791862	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1028469	chr7:27767795-27939667	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2758109	chr7:27793616-27972869	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv2759520	chr7:27793616-27972869	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1030685	chr7:27844038-28177301	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27908000-27935000	Weak transcription	Primary T cells from cord blood	blood
2	chr7:27909400-27937200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:27914400-27937200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:27915400-27939400	Weak transcription	NHDF-Ad	bronchial
5	chr7:27915800-27937200	Weak transcription	Gastric	stomach
6	chr7:27915800-27937200	Weak transcription	Right Ventricle	heart
7	chr7:27922800-27937000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr7:27923800-27936800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr7:27923800-27941000	Weak transcription	Fetal Brain Female	brain
10	chr7:27924000-27937200	Weak transcription	Lung	lung
11	chr7:27924000-27938800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:27924000-27938800	Weak transcription	Spleen	Spleen
13	chr7:27924200-27936400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr7:27924200-27936600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr7:27925800-27935000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:27925800-27937000	Weak transcription	Fetal Heart	heart
17	chr7:27926600-27956000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:27927800-27936400	Weak transcription	HSMMtube	muscle
19	chr7:27928000-27939800	Weak transcription	Osteobl	bone
20	chr7:27928400-27940600	Weak transcription	NHLF	lung
21	chr7:27928400-27940800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr7:27928800-27937400	Weak transcription	Psoas Muscle	Psoas
23	chr7:27930000-27938400	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr7:27930000-27939600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr7:27930000-27949800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:27930200-27936400	Weak transcription	Fetal Intestine Small	intestine
27	chr7:27930800-27934000	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr7:27930800-27934200	Strong transcription	Primary B cells from cord blood	blood
29	chr7:27930800-27939600	Weak transcription	GM12878-XiMat	blood
30	chr7:27931200-27939600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr7:27931400-27934600	Strong transcription	Primary B cells from peripheral blood	blood
32	chr7:27931400-27935200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr7:27931600-27934800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr7:27931600-27939400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:27931800-27934400	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr7:27931800-27938800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr7:27931800-27940800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr7:27931800-27941000	Weak transcription	Fetal Muscle Trunk	muscle
39	chr7:27932000-27935600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr7:27932000-27941000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr7:27932400-27934200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr7:27932400-27934200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:27932600-27934400	Strong transcription	Fetal Muscle Leg	muscle
44	chr7:27932800-27934200	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr7:27932800-27934400	Strong transcription	Adipose Nuclei	Adipose
46	chr7:27932800-27935000	Strong transcription	Colon Smooth Muscle	Colon
47	chr7:27932800-27935400	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr7:27932800-27941000	Weak transcription	Thymus	Thymus
49	chr7:27933000-27934000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr7:27933000-27934200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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